TRAPPC2
Trafficking Protein Particle Complex Subunit 2
Gene Information Card
| Symbol | TRAPPC2 |
|---|---|
| Full Name | Trafficking Protein Particle Complex Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 6399 ncbi.nlm.nih.gov/gene/6399 |
| Ensembl ID | ENSG00000196459 |
| UniProt ID | P0DI81 |
| OMIM ID | 300202 |
| HGNC ID | 19968 |
| Aliases | SEDL, MGC111024, TRS20, TRAPPC2P1 |
Description
The TRAPPC2 gene encodes a subunit of the trafficking protein particle (TRAPP) complex, which is involved in vesicle transport from the endoplasmic reticulum to the Golgi apparatus. Mutations in this gene cause spondyloepiphyseal dysplasia tarda (SEDT), an X-linked skeletal disorder characterized by short stature and joint abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spondyloepiphyseal dysplasia tarda (SEDT) | Loss of TRAPPC2 function disrupts ER-to-Golgi transport, impairing chondrocyte function and matrix deposition. | OMIM #313400; multiple reports of nonsense, missense, and splice-site mutations in affected families. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Low |
| Lung | 6.1 | Low |
| Brain | 5.4 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical carcinoma |
| HEK 293 | 12.8 | Embryonic kidney |
| HepG2 | 9.1 | Hepatocellular carcinoma |
| K562 | 7.5 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1Thr) | Missense | Rare | Loss of start codon, likely loss of function |
| c.155G>A (p.Arg52His) | Missense | Rare | Impaired TRAPP complex assembly |
| c.325+1G>A | Splice site | Rare | Exon skipping, frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most SEDT-associated mutations lead to loss of TRAPPC2 function, disrupting vesicle trafficking.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; X-linked recessive inheritance.
View complete mutation data：
Gene Ontology (GO)
| • ER to Golgi vesicle-mediated transport | • TRAPP complex |
| • vesicle tethering | • Golgi organization |
| • protein transport |
Pathways
• ER-to-Golgi vesicle transport
• TRAPP complex pathway
Protein Summary
TRAPPC2 is a 140-amino-acid protein that forms part of the TRAPP complex, which tethers vesicles to the Golgi membrane. It is highly conserved and essential for proper intracellular trafficking. Loss of function leads to skeletal dysplasia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRAPPC2 Knockout HeLa Cell Line | EDJ-KQ27 | Human | 6399 | Details Get a Quote |
| TRAPPC2L Knockout HEK293 Cell Line | EDJ-KQ11191 | Human | 51693 | Details Get a Quote |
| TRAPPC2L Knockout HeLa Cell Line | EDJ-KQ37917 | Human | 51693 | Details Get a Quote |
| TRAPPC2L Knockout A-549 Cell Line | EDJ-KQ39245 | Human | 51693 | Details Get a Quote |
| TRAPPC2L Knockout HCT 116 Cell Line | EDJ-KQ39246 | Human | 51693 | Details Get a Quote |
| TRAPPC2 Knockout HEK293 Cell Line | EDJ-KQ50620 | Human | 6399 | Details Get a Quote |
| TRAPPC2 Knockout A-549 Cell Line | EDJ-KQ62928 | Human | 6399 | Details Get a Quote |
| TRAPPC2 Knockout HCT 116 Cell Line | EDJ-KQ71398 | Human | 6399 | Details Get a Quote |
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